Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostics Services |
RCV002465076 | SCV002759471 | uncertain significance | Polycystic kidney disease 4 | 2022-10-19 | criteria provided, single submitter | clinical testing | The c.6101A>T variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our in-house exome database. This variant has neither been published nor reported to clinical databases like OMIM, ClinVar and/or Human Genome Mutation Database (HGMD), in any affected individuals. In-silico pathogenicity prediction programs like SIFT, Polyphen2, MutationTaster2, CADD, etc. predicted this variant to be likely deleterious, however these predictions were not confirmed by any published functional studies. |